C1606Y (p.Cys1606Tyr) variant of NSD1 (Q96L73)
C1606Y (p.Cys1606Tyr) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C1606Y (p.Cys1606Tyr) variant details
- p.Cys1606Tyr
- rs587784127
- ClinGen CA294906
- ClinVar RCV003231245
- ClinVar RCV005089699
- Pathogenic/Likely pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)